OMIM ID:
Corneal Dystrophy, Subepithelial Mucinous
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
This disorder, reported so far in a single family, is an anterior corneal dystrophy with onset in the first decade of life. The frequency of epithelial erosions tended to subside during adolescence but visual acuity continued to decline secondary to subepithelial nodular opacities and a generalized haze most dense centrally. No geographic lines are present and cystic changes in the epithelium were absent. Bowman layer and deeper stuctures of the cornea are unaffected. Patients may have 20/30 vision into the fifth decade but after that it may decrease into the 20/400 range. EM revealed accumulations of subepithelial fibrillar material. Light microscopy and immunohistochemistry showed the material to be chondroitin-4-sulfate and dermatan sulfate.
Systemic Features
No systemic disease association has been reported.
Genetics
Inheritance
In the single 3 generation family reported, the pattern of inheritance was consistent with autosomal dominant inheritance. No locus or mutation has been reported.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission